Disease: CHARGE Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622523
rs864622523
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		C 0.700 CausalMutation CLINVAR The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs864622523
rs864622523
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		C 0.700 CausalMutation CLINVAR Mutation update on the CHD7 gene involved in CHARGE syndrome. 22461308 2012
dbSNP: rs864622523
rs864622523
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0265354
Disease:
CHARGE Syndrome 		C 0.700 GeneticVariation CLINVAR